Results 121 to 130 of about 3,882 (211)

Generation and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease. [PDF]

Orphanet J Rare Dis
Huang W, Wang J, Zhou Y, Xiao H, Jiang K, Cui J, Zhang Y, Zhou R.   +7 more
europepmc   +1 more source

Hepatic Glycogenosis: A Rare Complication of Type 1 Diabetes Mellitus. [PDF]

Cureus
Jemai C, Fakhfakh Y, Hadj Ali Z, Htira Y, Ben Mami F.   +4 more
europepmc   +1 more source

Two Cases in Glycogenosis Type Ⅳ.Ⅰ. Light Microscopic Observation.

glycogenosis type Ⅳ, which is characterized by deposits of polysaccharide in the liver and liver cirrhosis resembling postencratic type, were described in two children. They were siblings, had a sister with an identical disease and had unrelated parents.
Uchino, Fumiya, Adachi, Hironobu, Misawa, Sachiyo, Watanabe, Seishiro, Takahashi, Mutsuo, Onishi, Hiromi, Ishihara, Tokuhiro, Ikee, Yoshihiko   +7 more
core  

Pediatric Diffuse Lung Disease in Infants: Imaging Findings and Histopathologic Correlation. [PDF]

Radiographics
Ramirez-Suarez KI, Martinez-Correa S, Tierradentro-Garcia LO, White AM, Medina Perez M, Otero HJ, Biko DM, Young LR, Pogoriler J, Lichtenberger JP, Rapp JB.   +10 more
europepmc   +1 more source

Multi-omics analysis reveals gut microbial and metabolic signatures in metabolic dysfunction-associated steatotic liver disease. [PDF]

Front Microbiol
Maimaitiyiming M, Maihemuti S, Aierken T, Abulimiti G, Aibaidula T, Guan Y, Simayi A, Aimaiti M, Wang X, Abuduaini A, Aishan Y.   +10 more
europepmc   +1 more source

Pregnancy in Patients With McArdle's Disease. [PDF]

Cureus
Rodrigues Dos Santos J, Távora C, Nogueira da Fonseca I, Cruz D.   +3 more
europepmc   +1 more source

Placental transmogrification of the lung in <i>AKT1</i>-related Proteus syndrome. [PDF]

ERJ Open Res
Nakajima T, Nakatani Y, Kasajima R, Nakazato Y, Aruga T, Tokuyama W, Miyagi Y, Chida M.   +7 more
europepmc   +1 more source

Knockout of the Carbohydrate Responsive Element Binding Protein Enhances Proliferation and Tumorigenesis in Renal Tubules of Mice. [PDF]

Int J Mol Sci
Hansen K, Peters K, Burkert CK, Brose E, Calvisi DF, Ehricke K, Engeler M, Knuth E, Kröger N, Lohr A, Prey J, Sonke J, Vakeel P, Wladasch J, Zimmer J, Dombrowski F, Ribback S.   +16 more
europepmc   +1 more source

Nonfatal Isolated Cardiac Nonlysosomal Glycogenosis: A Rare Cause of Infantile Hypertrophic Cardiomyopathy. [PDF]

CJC Pediatr Congenit Heart Dis
Deshaies C, Sett S, Penney L, Dhillon S.
europepmc   +1 more source

Cardiomyopathies: Temporal Review and Genetic Determination. [PDF]

Biomedicines
Thiene G, Rizzo S, Basso C.
europepmc   +1 more source